NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003569357.2
Allele description [Variation Report for NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)]
NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
atlastin-1 isoform b [Homo sapiens]
atlastin-1 isoform b [Homo sapiens]gi|189181742|ref|NP_001121185.1|Protein
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Last Updated: Sep 29, 2024